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This gene encodes a protein that belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain, a BACK domain and six C-terminal kelch repeats. The encoded protein is a component of a complex with cullin 3-based E3 ligase, which plays a role in mitosis. This protein complex is a cell cycle regulator, and functions in the organization and integrity of the spindle midzone in anaphase and the completion of cytokinesis. The complex is required for the removal of the chromosomal passenger protein aurora B from mitotic chromosomes. [provided by RefSeq, Jul 2016]
KLHL9 (Kelch Like Family Member 9) is a Protein Coding gene. Diseases associated with KLHL9 include Klhl9-Related Early-Onset Distal Myopathy and Nemaline Myopathy 9. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is KLHL13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004842 | contributes_to ubiquitin-protein transferase activity | IDA | 17543862 |
GO:0005515 | protein binding | IEA | -- |
GO:0097602 | cullin family protein binding | IPI | 14528312 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005829 | cytosol | TAS | -- |
GO:0030496 | midbody | IBA,IDA | 19995937 |
GO:0031463 | Cul3-RING ubiquitin ligase complex | IDA | 17543862 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Ubiquitin mediated proteolysis | ||
3 | Innate Immune System |
.61
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4 | Aurora B signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0016567 | protein ubiquitination | IEA | -- |
GO:0032465 | regulation of cytokinesis | IMP | 17543862 |
GO:0043687 | post-translational protein modification | TAS | -- |
GO:0051301 | cell division | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KLHL9 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KLHL9 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC100688162 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Klhl9 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Klhl9 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | KLHL13 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | klhl13 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.31679 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | klhl13 30 31 |
|
OneToMany | |
wufc15b07 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6929 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs780821611 | Likely Pathogenic: not provided | 21,334,300(-) | G/C | MISSENSE_VARIANT | |
rs869312950 | Uncertain Significance: Inborn genetic diseases | 21,333,897(-) | A/T | MISSENSE_VARIANT | |
rs980802126 | Uncertain Significance: not provided | 21,334,417(-) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2764150 | CNV | gain+loss | 21179565 |
Disorder | Aliases | PubMed IDs |
---|---|---|
klhl9-related early-onset distal myopathy |
|
|
nemaline myopathy 9 |
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|
autosomal dominant distal myopathy |
|
|
nemaline myopathy 8 |
|
|
nemaline myopathy 11, autosomal recessive |
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|